Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal upper lip morphology (HP:0000177)

Parent Node:
Abnormality of upper lip vermillion (HP:0011339)

..Starting node
..Absent cupid's bow (HP:0010800)

Term ID:

10800

Name:

Absent cupid's bow

Synonym:

Absent cupid's bow; Agenesis of cupid's bow; Aplasia of cupid's bow; Failure of development of cupid's bow; Lack of cupid's bow; Missing cupid's bow

Definition:

Lack of paramedian peaks and median notch of the upper lip vermilion.

Comments:

Reference:

HP:0010800

Genes and Diseases:

Child Nodes:

Sister Nodes:

Everted upper lip vermilion (HP:0010803)

Exaggerated cupid's bow (HP:0002263)

Tented upper lip vermilion (HP:0010804)

Thick upper lip vermilion (HP:0000215)

Thin upper lip vermilion (HP:0000219)

U-Shaped upper lip vermilion (HP:0010806)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010800	HP:0010800	Absent cupid's bow	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0010800	HP:0010800	Absent cupid's bow	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0010800	HP:0010800	Absent cupid's bow	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8

Genes (3) :DDX59 WAC WDR26

Diseases (3) :ORPHA:2919 ORPHA:284169 ORPHA:513456

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.